Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal nasolacrimal system morphology (HP:0000614)

Parent Node:
Abnormal lacrimal punctum morphology (HP:0011479)

..Starting node
..Lacrimal punctal atresia (HP:0007820)

Term ID:

7820

Name:

Lacrimal punctal atresia

Synonym:

Atretic lacrimal puncta; Atretic lacrimal punctum

Definition:

Congenital absence or closure of the opening of the lacrimal punctum.

Comments:

Reference:

HP:0007820

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent lacrimal punctum (HP:0001092)

Ectopic lacrimal punctum (HP:0010748)

Hypoplasia of the lacrimal punctum (HP:0007892)

Punctal stenosis (HP:0025572)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007820	HP:0007820	Lacrimal punctal atresia	0	CL E G H

Genes (0) :

Diseases (0) :

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.